Title: Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
Authors: Moog, Ute ×
Engelen, John J M
van Schrojenstein Lantman-de Valk, Henny M J
Driessen, Sandra D
Fryns, Jean-Pierre #
Issue Date: Jan-2003
Series Title: Clinical dysmorphology. vol:12 issue:1 pages:35-9
Abstract: The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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